nsv3167732
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,727
- Description:qual score = 99
- Publication(s):Exome Aggregation Consortium CNVs
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 126 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 47 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 36 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 47 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3167732 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,142,976 | 54,159,700 |
nsv3167732 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 117,825 | 134,551 |
nsv3167732 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_8 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 117,825 | 134,551 |
nsv3167732 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 117,825 | 134,551 |
nsv3167732 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 117,825 | 134,551 |
nsv3167732 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 117,825 | 134,551 |
nsv3167732 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 117,825 | 134,551 |
nsv3167732 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 117,825 | 134,551 |
nsv3167732 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 117,825 | 134,551 |
nsv3167732 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 117,825 | 134,550 |
nsv3167732 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 54,646,712 | 54,663,438 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv14226950 | copy number gain | Sequencing | Read depth |
nssv14226951 | copy number gain | Sequencing | Read depth |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14226950 | Remapped | Perfect | NT_187693.1:g.(?_1 17825)_(134551_?)d up | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 117,825 | 134,551 |
nssv14226951 | Remapped | Perfect | NT_187693.1:g.(?_1 17825)_(134551_?)d up | GRCh38.p12 | Second Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 117,825 | 134,551 |
nssv14226950 | Remapped | Perfect | NW_003571061.2:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 117,825 | 134,551 |
nssv14226951 | Remapped | Perfect | NW_003571061.2:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | Second Pass | NW_003571061.2 | Chr19|NW_0 03571061.2 | 117,825 | 134,551 |
nssv14226950 | Remapped | Perfect | NW_003571057.2:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 117,825 | 134,551 |
nssv14226950 | Remapped | Perfect | NW_003571058.2:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 117,825 | 134,551 |
nssv14226950 | Remapped | Perfect | NW_003571059.2:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 117,825 | 134,551 |
nssv14226950 | Remapped | Perfect | NW_003571060.1:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 117,825 | 134,551 |
nssv14226951 | Remapped | Perfect | NW_003571057.2:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | Second Pass | NW_003571057.2 | Chr19|NW_0 03571057.2 | 117,825 | 134,551 |
nssv14226951 | Remapped | Perfect | NW_003571058.2:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | Second Pass | NW_003571058.2 | Chr19|NW_0 03571058.2 | 117,825 | 134,551 |
nssv14226951 | Remapped | Perfect | NW_003571059.2:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | Second Pass | NW_003571059.2 | Chr19|NW_0 03571059.2 | 117,825 | 134,551 |
nssv14226951 | Remapped | Perfect | NW_003571060.1:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 117,825 | 134,551 |
nssv14226950 | Remapped | Perfect | NW_003571056.2:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 117,825 | 134,551 |
nssv14226951 | Remapped | Perfect | NW_003571056.2:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | Second Pass | NW_003571056.2 | Chr19|NW_0 03571056.2 | 117,825 | 134,551 |
nssv14226950 | Remapped | Perfect | NW_003571055.2:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 117,825 | 134,551 |
nssv14226951 | Remapped | Perfect | NW_003571055.2:g.( ?_117825)_(134551_ ?)dup | GRCh38.p12 | First Pass | NW_003571055.2 | Chr19|NW_0 03571055.2 | 117,825 | 134,551 |
nssv14226950 | Remapped | Good | NW_003571054.1:g.( ?_117825)_(134550_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 117,825 | 134,550 |
nssv14226951 | Remapped | Good | NW_003571054.1:g.( ?_117825)_(134550_ ?)dup | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 117,825 | 134,550 |
nssv14226950 | Remapped | Good | NC_000019.10:g.(?_ 54142976)_(5415970 0_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,142,976 | 54,159,700 |
nssv14226951 | Remapped | Good | NC_000019.10:g.(?_ 54142976)_(5415970 0_?)dup | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,142,976 | 54,159,700 |
nssv14226950 | Submitted genomic | NC_000019.9:g.(?_5 4646712)_(54663438 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,646,712 | 54,663,438 | ||
nssv14226951 | Submitted genomic | NC_000019.9:g.(?_5 4646712)_(54663438 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 54,646,712 | 54,663,438 |